Aliases for EFCAB9 Gene
External Ids for EFCAB9 Gene
Previous GeneCards Identifiers for EFCAB9 Gene
This gene encodes a protein with a C-terminal EF-hand calcium-binding domain similar to that found in penta-EF-hand (PEF) protein family members. The EF-hand is a helix-loop-helix structure with a canonical twelve-residue sequence that coordinates a calcium molecule with pentagonal bipyramidal symmetry. [provided by RefSeq, Jul 2017]
GeneCards Summary for EFCAB9 Gene
EFCAB9 (EF-Hand Calcium Binding Domain 9) is a Protein Coding gene. Diseases associated with EFCAB9 include Anemia, Congenital Dyserythropoietic, Type Ia. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is CALM2.
UniProtKB/Swiss-Prot Summary for EFCAB9 Gene
pH-dependent Ca(2+) sensor required to activate the CatSper channel, a complex involved in sperm cell hyperactivation. Sperm cell hyperactivation is needed for sperm motility which is essential late in the preparation of sperm for fertilization. Associates with the CatSper complex via direct interaction with CATSPERZ, and senses intracellular Ca(2+). Together with CATSPERZ, associates with the CatSper channel pore and is required for the two-row structure of each single CatSper channel.